A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6254743



Internal ID22059353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70412360..70412360hg38UCSC Ensembl
chr1:70878043..70878043hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17854513
Samples
Known GenesCTH
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6254743
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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